RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58067197
T1 Complex V Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58067197
RD 2024/04/19
AB Complex  V  (Adenosine  triphosphate  (ATP)  synthase  or  ATPase)  couples  proton  flow  from  the  inter-membrane  space  back  to  the  matrix  by  the  conversion  of  ADP  and  inorganic  phosphate  to  ATP.  Mitochondrial  ATPase  is  a  multisubunit  enzyme  that  catalyzes  ATP  synthesis  during  oxidative  phosphorylation.  The  complete  loss  of  the  ATP  synthase  enzyme  activity  is  probably  not  compatible  with  life.  However,  partial  loss  or  complex  V  deficiency,  reflected  by  a  lower  amount  of  functional  ATP  synthase,  causes  a  medical  condition  characterized  by  progressive  myopathy,  hypertrophic  cardiomyopathy,  seizures,  and  severe  lactic  acidosis.  It  is  often  associated  with  evidence  of  brainstem  degeneration  leading  to  coma.  The  presence  of  methyl  glutaconic  aciduria  can  be  a  major  clue  in  the  diagnosis  of  Complex  V  deficiency  in  an  infant.  Only  few  cases  have  been  described  in  the  literature.  The  clinical  features  included  craniofacial  dysmorphism,  micrognathia,  and  hypospadias.  Progressive  muscle  hypotonia,  severe  lactic  acidosis,  hypertrophic  cardiomyopathy,  and  hepatomegaly  were  also  present.  Heart  failure  is  reported  as  the  cause  of  death  within  the  first  week  of  life.